© 2019 Chongqing Medical University. Production and hosting by Elsevier B.V.Background Three-dimensional (3D) printed tissue engineered bone was used to repair the bone tissue defects in the oral and maxillofacial (OMF) region of experimental dogs. Material and methods Canine bone marrow stromal cells (BMSCs) were obtained from 9 male Beagle dogs and in&nbsp;vitro cultured for osteogenic differentiation. The OMF region was scanned for 3D printed surgical guide plate and mold by ProJet1200 high-precision printer using implant materials followed sintering at 1250&nbsp;°C. The tissue engineered bones was co-cultured with BASCs for 2 or 8&nbsp;d. The cell scaffold composite was placed in the defects and fixed in 9 dogs in 3 groups. Postoperative CT and/or micro-CT scans were performed to observe the osteogenesis and material degradation. Results BMSCs were cultured with osteogenic differentiation in the second generation (P2). The nanoporous hydroxyapatite implant was made using the 3D printing mold with the white porous structure and the hard texture. BMSCs with osteogenic induction were densely covered with the surface of the material after co-culture and ECM was secreted to form calcium-like crystal nodules. The effect of the tissue engineered bone on the in&nbsp;vivo osteogenesis ability was no significant difference between 2&nbsp;d and 8&nbsp;d of the compositing time. Conclusions The tissue-engineered bone was constructed by 3D printing mold and high-temperature sintering to produce nanoporous hydroxyapatite scaffolds, which repair in situ bone defects in experimental dogs. The time of compositing for tissue engineered bone was reduced from 8&nbsp;d to 2&nbsp;d without the in&nbsp;vivo effect. © 2019 Chongqing Medical University. Production and hosting by Elsevier B.V.Mutations in the gene encoding transfer RNA (tRNA) nucleotidyltransferase, CCA-adding 1 (TRNT1), an enzyme essential for the synthesis of the 3'-terminal CCA sequence in tRNA molecules, are associated with a rare syndrome of congenital sideroblastic anemia, B cell immunodeficiency, periodic fevers, and developmental delay (SIFD). Clinical manifestations and immunological phenotypes were assessed in a Chinese patient with novel compound heterozygous mutations in TRNT1. The patient required multiple hospitalizations starting at the age of 2&nbsp;years for recurrent fevers without an infective cause. During the febrile episode, the patient was found to have microcytic hypochromic anemia, B cell lymphopenia, and hypogammaglobulinemia. Targeted gene sequencing identified novel compound heterozygous mutations in the TRNT1 gene (c.525delT, p.Leu176X; c.938T&gt;C, p.Leu313Ser). Immunophenotyping revealed increased CD8+ T cells, CD4+ terminally differentiated effector memory helper T lymphocytes (CD4 TEMRA), and CD4+ effector memory lymphocytes (CD4 EM). Analysis of CD4+ T subsets identified decreased T follicular helper cells (Tfh) with a biased phenotype to Th2-like cells. The patient also showed a lower percentage of switched memory B (smB) cells. Additionally, defects in the cytotoxicity of the patient's NK and γδT cells were shown by CD107alpha expression. In conclusion, T RNT1 mutations may lead to multiple immune abnormality especially humoral and cytotoxicity defects, which indicate that SIFD is not only suffered 'Predominantly antibody deficiencies' in IUIS classification system, and further studies are needed to understand the pathogenesis of immunodeficiency in these patients. © 2020 Chongqing Medical University. Production and hosting by Elsevier B.V.Accumulating evidence indicates that RIPK1 is associated with inflammation and apoptotic. RIPK1 deficiency leads to proinflammatory signaling impaired. However, only few patients with homozygous loss-of-function mutation in RIPK1 gene had been reported until now. Here, we report a Chinese combined immunodeficiency patient. He had recurrent infection, diarrhea after 3 months old. Immune function indicated that T, B and NK cells decreased significantly but immunoglobulins approximately remained normal. Whole-exome sequencing indicated that he had novel compound heterozygous mutations (c.998&nbsp;C&nbsp;&gt;&nbsp;A from his mother and c.1934 C&nbsp;&gt;&nbsp;T from his father) in RIPK1 gene, which were confirmed by Sanger sequencing. Our study reports novel mutations in RIPK1 gene and new phenotype of patient with RIPK1 deficiency. © 2019 Chongqing Medical University. Production and hosting by Elsevier B.V.Selective immunoglobulin A deficiency (SIgAD) is considered to be the most common human primary immune-deficiency disease in the world. However, the incidence in China is obviously lower than Caucasian races. The definition of SIgAD has changed over time with the progress of people's understanding. The scientific community did not reach a consensus on the definition until 1999. https://www.selleckchem.com/products/ml792.html As a result, many previously reported cases need to be excluded under the current definition. SIgAD can lead to several spectra of diseases including infections and autoimmune diseases. We retrospectively summarized the SIgAD patients in Peking Union Medical College Hospital (PUMCH), and summarized the Chinese SIgAD reported in China and abroad in past 40 years. Fourty three SIgAD patients were confirmed in the study, in which 9 were healthy without clinical symptoms. Of the 34 patients with clinical symptoms, recurrent infections were found in 29 (85.3%) patients; 13 (38.2%) patients were with autoimmune diseases; 6 (17.6%)cases had allergic symptoms; 3 patients (8.8%) were with tumors, only one case (2.9%) had a family history. Compared with other countries, sIgAD patients in China showed similar symptoms, but the rate of recurrent infections and autoimmune diseases were higher than some other countries; most of the allergic symptoms are drug allergy, different with the allergic sequelae reported in other countries, such as asthma, rhinitis, food allergy and atopic dermatitis; and it is rare to have family history in Chinese patients. We also figured out that more female SIgAD patients tend to have more autoimmune diseases than men (P&nbsp;=&nbsp;0.039). © 2019 Chongqing Medical University. Production and hosting by Elsevier B.V.